Syndactyly, Type V (SDTY5)

Syndactyly, Type V(来自ICD-11)
别称:
Syndactyly Type 5
Sdty5
Syndactyly with Metacarpal and Metatarsal Fusion
Postaxial Syndactyly with Metacarpal Synostosis
Sd5
Syndactyly with Associated Metacarpal and Metatarsal Fusion
Syndactyly, Type V, with Metacarpal and Metatarsal Fusion
Syndactyly Type V
Syndactyly 5
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Syndactyly, Type V, also known as syndactyly type 5, is related to brachydactyly, type a4 and brachydactyly, type d. An important gene associated with Syndactyly, Type V is HOXD13 (Homeobox D13), and among its related pathways/superpathways is FGFR3 signaling in chondrocyte proliferation and terminal differentiation. Affiliated tissues include bone and kidney, and related phenotypes are short distal phalanx of finger and ulnar deviation of finger
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基础信息

遗传方式
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参考文献
MALACARDS
AD
Newborn
<1/1000000
11
128
5

疾病表征

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基因 & 突变

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靶点药物

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MGI
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